A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946150



Internal ID18593000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:113198265..113199472hg38UCSC Ensembl
Innerchr1:113740887..113742094hg19UCSC Ensembl
Innerchr1:113542410..113543617hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381208
hg191208
hg181208
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1782602, nssv1782601, nssv1782597, nssv1782603, nssv1782604, nssv1782605, nssv1782606, nssv1782599, nssv1782600, nssv1782598
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLOC643441
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946150
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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